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Results for the Protein: P11150
317373430

LIPC_HUMAN RecName: Full=Hepatic triacylglycerol lipase; Short=HL; Short=Hepatic lipase; AltName: Full=Lipase member C; Flags: Precursor

Known Diseases associated with this Protein:
  HEPATIC LIPASE DEFICIENCY
  HEPATIC LIPASE DEFICIENCY (HL DEFICIENCY)
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Default View:

Lipase - pfam00151
Pancreat_lipase_like - cd00707
Lipase - cd00741
PLAT - pfam01477
LH2 - smart00308
PLAT_lipase - cd01755
PLAT - cd00113
PLAT_LPL - cd01758


Swiss-Prot Protein: P11150
Identical to: NP_000227
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pancreat_lipase_likecd007074.1e-12148345
Lipasecd007411.6e-27135283
PLATcd001131.1e-45352485
PLAT_lipasecd017556.3e-70352487
PLAT_LPLcd017582.6e-91352487
Lipasepfam001517.6e-16919349
PLATpfam014779.9e-37352487
LH2smart003083.2e-41352475

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6083 Polymorphismp.ASN215SERN/A
Swiss-ProtVAR_017026Polymorphismp.ASP409ALAN/A
dbSNPrs3829462 Polymorphismp.PHE356LEUN/A
Swiss-ProtVAR_014179Polymorphismp.SER440ASNN/A
Swiss-ProtVAR_004209Diseasep.SER289PHEHepatic lipase deficiency (HL deficiency)
Swiss-ProtVAR_004210Diseasep.THR405METHepatic lipase deficiency (HL deficiency)
Swiss-ProtVAR_017024Polymorphismp.VAL342ILEN/A
dbSNPrs6078 Polymorphismp.VAL95METN/A
OMIM151670.0006 Diseasep.ALA174THRHEPATIC LIPASE DEFICIENCY
OMIM151670.0002 Diseasep.SER267PHEHEPATIC LIPASE DEFICIENCY
OMIM151670.0001 Diseasep.THR383METHEPATIC LIPASE DEFICIENCY



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